Search

everythinglearnresearchcommunity

for

Search:↓

Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.

Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.

Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.

Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.

Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.

A new gene variant in the DSP gene is linked to a unique type of hair loss.

The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.

Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.

K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.

Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.

Standard treatment for congenital erythropoietic porphyria was ineffective over five years.

Genetic mutations can affect female sexual development, requiring personalized medical care.

WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.

Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.

Mutations in the LSS gene cause a rare type of hereditary hair loss.

People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.

Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.

APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.

Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.

Mutations in certain receptors can cause diseases and offer new treatment options.

Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.

Hair loss can indicate or worsen with systemic diseases, and treating the underlying condition is important.

The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.

Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.

PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.